rs273900718

minus

Geno	Mag	Summary
(-;G)	6	BRCA1 variant considered pathogenic for breast cancer
(G;G)	0	common in clinvar

Make rs273900718(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43091669

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs273900718
dbSNP (classic)	rs273900718
ClinGen	rs273900718
ebi	rs273900718
HLI	rs273900718
Exac	rs273900718
Gnomad	rs273900718
Varsome	rs273900718
LitVar	rs273900718
Map	rs273900718
PheGenI	rs273900718
Biobank	rs273900718
1000 genomes	rs273900718
hgdp	rs273900718
ensembl	rs273900718
geneview	rs273900718
scholar	rs273900718
google	rs273900718
pharmgkb	rs273900718
gwascentral	rs273900718
openSNP	rs273900718
23andMe	rs273900718
SNPshot	rs273900718
SNPdbe	rs273900718
MSV3d	rs273900718
GWAS Ctlg	rs273900718

Max Magnitude

6

rs273900718, also known as 3981delG, c.3862_3862delG and p.Glu1288Lysfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs273900718(-;-)
Alt	rs273900718(-;-)
Reference	Rs273900718(G;G)
Significance	Pathogenic
Disease	Familial cancer of breast Breast-ovarian cancer
Variation	info
Gene	BRCA1
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 1
Reversed	1
HGVS	NC_000017.10:g.41243686delC
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000048360.2, RCV000112204.2,